Hereditary Leiomyomatosis and Renal Cell Cancer in a Patient With Isolated Uterine Leiomyomas

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare autosomal dominant syndrome that is characterized by renal cell carcinoma, cutaneous leiomyomas, and uterine leiomyomas. Although HLRCC is usually identified in individuals with multiple cutaneous leiomyomas or a personal or family history of renal cell carcinoma, advances in histopathology have allowed detection of HLRCC in myomectomy and hysterectomy specimens.

A 36-year-old patient with a large leiomyoma was referred to gynecology for heavy menstrual bleeding. After no response to medical management, she proceeded with elective myomectomy. Fumarate hydratase (FH) immunohistochemical staining of the myomectomy specimen and subsequent molecular genetic analysis of the FH gene confirmed a diagnosis of HLRCC.

As more patients with HLRCC are identified with a primary presentation of leiomyomas, it is essential that gynecologists are familiar with this diagnosis. Health care professionals should inquire about skin lesions and family history of renal cell carcinoma in patients with symptomatic leiomyomas and refer patients with risk factors or pathology findings suggestive of HLRCC for genetic counseling.